Search Results - "Toonen, Lodewijk J. A."

Ataxin-3 Protein and RNA Toxicity in Spinocerebellar Ataxia Type 3: Current Insights and Emerging Therapeutic Strategies by Evers, Melvin M., Toonen, Lodewijk J. A., van Roon-Mom, Willeke M. C.

“…Ataxin-3 is a ubiquitously expressed deubiqutinating enzyme with important functions in the proteasomal protein degradation pathway and regulation of…”
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Transcriptional profiling and biomarker identification reveal tissue specific effects of expanded ataxin-3 in a spinocerebellar ataxia type 3 mouse model by Toonen, Lodewijk J A, Overzier, Maurice, Evers, Melvin M, Leon, Leticia G, van der Zeeuw, Sander A J, Mei, Hailiang, Kielbasa, Szymon M, Goeman, Jelle J, Hettne, Kristina M, Magnusson, Olafur Th, Poirel, Marion, Seyer, Alexandre, 't Hoen, Peter A C, van Roon-Mom, Willeke M C

“…Spinocerebellar ataxia type 3 (SCA3) is a progressive neurodegenerative disorder caused by expansion of the polyglutamine repeat in the ataxin-3 protein…”
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Genetics, Mechanisms, and Therapeutic Progress in Polyglutamine Spinocerebellar Ataxias by Buijsen, Ronald A.M., Toonen, Lodewijk J.A., Gardiner, Sarah L., van Roon-Mom, Willeke M.C.

“…Autosomal dominant cerebellar ataxias (ADCAs) are a group of neurodegenerative disorders characterized by degeneration of the cerebellum and its connections…”
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Huntington Disease Gene Expression Signatures in Blood Compared to Brain of YAC128 Mice as Candidates for Monitoring of Pathology by Kuijper, Elsa C., Toonen, Lodewijk J. A., Overzier, Maurice, Tsonaka, Roula, Hettne, Kristina, Roos, Marco, van Roon-Mom, Willeke M. C., Mina, Eleni

“…While the genetic cause of Huntington disease (HD) is known since 1993, still no cure exists. Therapeutic development would benefit from a method to monitor…”
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Antisense oligonucleotide-mediated exon skipping as a strategy to reduce proteolytic cleavage of ataxin-3 by Toonen, Lodewijk J. A., Schmidt, Iris, Luijsterburg, Martijn S., van Attikum, Haico, van Roon-Mom, Willeke M. C.

“…Spinocerebellar ataxia type-3 (SCA3) is a neurodegenerative disorder caused by a polyglutamine repeat expansion in the ataxin-3 protein. Cleavage of mutant…”
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Antisense Oligonucleotide-Mediated Removal of the Polyglutamine Repeat in Spinocerebellar Ataxia Type 3 Mice by Toonen, Lodewijk J.A., Rigo, Frank, van Attikum, Haico, van Roon-Mom, Willeke M.C.

“…Spinocerebellar ataxia type 3 (SCA3) is a currently incurable neurodegenerative disorder caused by a CAG triplet expansion in exon 10 of the ATXN3 gene. The…”
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Intracerebroventricular Administration of a 2'-O-Methyl Phosphorothioate Antisense Oligonucleotide Results in Activation of the Innate Immune System in Mouse Brain by Toonen, Lodewijk J A, Casaca-Carreira, João, Pellisé-Tintoré, Maria, Mei, Hailiang, Temel, Yasin, Jahanshahi, Ali, van Roon-Mom, Willeke M C

“…Antisense oligonucleotides (AONs) are versatile molecules that can be used to modulate gene expression by binding to RNA. The therapeutic potential of AONs…”
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Antisense oligonucleotides in therapy for neurodegenerative disorders by Evers, Melvin M., Toonen, Lodewijk J.A., van Roon-Mom, Willeke M.C.

“…Antisense oligonucleotides are synthetic single stranded strings of nucleic acids that bind to RNA and thereby alter or reduce expression of the target RNA…”
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miRNA-Mediated Knockdown of ATXN3 Alleviates Molecular Disease Hallmarks in a Mouse Model for Spinocerebellar Ataxia Type 3 by Nobre, Rui Jorge, Lobo, Diana D, Henriques, Carina, Duarte, Sonia P, Lopes, Sara M, Silva, Ana C, Lopes, Miguel M, Mariet, Fanny, Schwarz, Lukas K, Baatje, M S, Ferreira, Valerie, Vallès, Astrid, Pereira de Almeida, Luis, Evers, Melvin M, Toonen, Lodewijk J A

“…Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder caused by the expansion of a CAG repeat in the gene. This mutation leads to a toxic gain…”
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In vivo proof-of-concept of removal of the huntingtin caspase cleavage motif-encoding exon 12 approach in the YAC128 mouse model of Huntington’s disease by Casaca-Carreira, João, Toonen, Lodewijk J.A, Evers, Melvin M, Jahanshahi, Ali, van-Roon-Mom, Willeke M.C, Temel, Yasin

“…Abstract Huntington’s disease (HD) is a progressive autosomal dominant disease, caused by a CAG repeat expansion in the HTT gene, resulting in an expanded…”
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